Said El Shamieh

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Said El Shamieh

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Medical Laboratory Technology

Google Scholar Citations: 1,057

H-Index: 19

01 300110 Ex: 2721


Said El Shamieh

Associate Professor

  • ORCID: 0000-0002-8522-0445 │Scopus: 36682267500
  • M.Sc. in Molecular, cellular and Structural Biology, Université de Lorraine, France.
  • PhD in Human Genetics, Université de Lorraine, France.
  • 2 years postdoctorate fellowship, Institut de la Vision, Sorbonnes Universités, Pierre et Marie Curie, Paris, France.
  • Published 62 articles in journals; American Journal of Human Genetics, European Journal of Human Genetics, Human Molecular Genetics, PLoS ONE, Genes, Orphanet Journal of Rare diseases, Frontiers in Genetics, and BMC Medical Genetics.
  • Co-inventor of the patent WO2013093091.
  • Member of the editorial board of BMC Medical Genomics, Frontiers in Bioscience-Landmark, Frontiers in Genetics.
  • Team Leader and member of the steering committee of the EU funded Erasmus+ OPPM (100K$, 3 years).


1 Jaffal L, Ibrahim M, El Shamieh S. Analysis of rod-cone dystrophy genes reveals unique mutational patterns. BMJ Open Science. 2022.
2 El Shamieh S and Maltese PE. Editorial: The genetics of inherited retinal diseases in understudied ethnic groups: novel associations, challenges, and perspectives. Frontiers in Genetics. 2022.
3 Maltese PE, Colombo L, Martella S, Rossetti L, El Shamieh S, Sinibaldi L, Passarelli C, Coppè AM, Buzzonetti L, Falsini B, Chiurazzi P, Placidi G, Tanzi B, Bertelli M, Iarossi G. Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Frontiers in Genetics. 2022.
4 Jaffal L, Akhdar H, Joumaa H, Ibrahim M, Chhouri Z, Assi A, Helou C, Lee H, Seo GH,Joumaa W, El Shamieh S. Novel missense and splice site mutations in USH2A, CDH23, PCDH15 and ADGRV1 are associated with USHER Syndrome in Lebanon. Frontiers in Genetics. 2022. 
5 Jaffal L, Mrad Z, Ibrahim M, Salami A, Audo I, Zeitz C, El Shamieh S. The research output of rod-cone dystrophy genetics. Orphanet Journal of Rare Diseases. 2022. 
6 Vitamin D Related Gene Polymorphisms and Cholesterol Levels in a Mediterranean Population. Fakhoury HMA, El Shamieh S, Rifai A, Tamim H, Fakhoury R. Journal of Cardiovascular Development and Diseases. 2022.
7 Chedid P, Salami A, Ibrahim M, Visvikis-Siest S, El Shamieh S. The association of vascular endothelial growth factor related SNPs and circulating iron levels might depend on body mass index. Front Biosci (Landmark Ed), 2022.
8 Smirnov VM, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh S, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel JA, Audo I, Zeitz C. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort. JAMA Ophthalmololgy. 2021.
9 Zeitz C, Nassisi M, Laurent-Coriat C, Andrieu C, Boyard F, Condroyer C, Démontant V, Antonio A, Lancelot ME, Frederiksen H, Kloeckener-Gruissem B, El Shamieh S, Zanlonghi X, Meunier I, Roux AF, Mohand-Saïd S, Sahel JA, Audo I. CHM mutation spectrum and disease: an update at the time of human therapeutic trials. Human Mutation. 2021.
10 El Shamieh S and Zgheib N. Pharmacogenetics in developing countries and low resource environments. Human Genetics, 2021. 
11 El Shamieh S†, Salami A, Fawaz M, Jounblat R, Waked M, Fakhoury R. rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease. Journal of Personalized Medicine, 2021. 
12 Jaffal L, Joumaa H, Mrad Z, Zeitz C, Audo I, El Shamieh, S. Genetics of rod-cone dystrophy in the Arab World. European Journal of Human Genetics, 2020.
13 Chedid P, Salami A, El Shamieh S†. The Association of rs1898830 in Toll-Like Receptor 2 with Lipids and Blood Pressure. J Cardiovasc Dev Dis. 2020.
14 El Ghoch M, El Shamieh S. Is There a Link Between Nutrition, Genetics, and Cardiovascular Disease? J Cardiovasc Dev Dis. 2020.
15 El Shamieh S†, Salami A, Stathopoulou MG, Chedid P, Visvikis-Siest S. Increased risk of hypercholesterolemia in a French and Lebanese population due to an interaction between rs2569190 in CD14 and gender. Clinica Chimica Acta. 2020.
16 Naja K, Salami A, El Shamieh S†, Fakhoury R†. rs622342 in SLC22A1, CYP2C9*2 and CYP2C9*3 and Glycemic Response in Individuals with Type 2 Diabetes Mellitus Receiving Metformin/Sulfonylurea Combination Therapy: 6-Month Follow-Up Study. J Pers Med. 2020.
17 El Shamieh S,Stathopoulou MG, Bonnefond A, Ndiaye NC, Lecoeur C, Meyre D, Dadé S, Chedid P, Salami A, Shahabi P, Dedoussis G, Froguel P, Visvikis-Siest S. Obesity status modifies the association between rs7556897T>C in the intergenic region SLC19A3-CCL20 and blood pressure in French children. Clinical Chemistry and Laboratory Medicine. 2020.
18 Moussa S, Saleh F, El Shamieh S, Assi T, Othman A, Farhat F. Detection of PIK3R1 (L449S) Mutation in a Patient with Ovarian Cancer: A Case Report. Case Reports in Oncology 2020.
19 Jaffal, L.; Joumaa, W.H.; Assi, A.; Helou, C.; Cherfan, G.; Zibara, K.; Audo, I.; Zeitz, C.; El Shamieh, S†. Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes. Genes 2019.
20 Salami A, Costanian C, El Shamieh S†. rs2569190A>G in CD14 is Independently Associated with Hypercholesterolemia: A Brief Report. Journal of Cardiovascular Development and Diseases. 2019.
21 Naja K, El Shamieh S†, Fakhoury R. rs622342A>C in SLC22A1 is associated with metformin pharmacokinetics and glycemic response. Drug Metabolism and Pharmacokinetics, 2019.
22 Masri I, Salami I, El Shamieh S†, Bissar Tadmouri† N. rs3851179G>A in PICALM is protective against Alzheimer’s disease in five different countries surrounding the Mediterranean. Current Aging Science, 2019.
23 Boulanger-Scemama E, Mohand-Saïd S, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Sahel JA, Zeitz C, Audo I. Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies. International Journal of Molecular Sciences. 2019.
24 Salami A, El Shamieh S†. Association between SNPs of Circulating Vascular Endothelial Growth Factor Levels, Hypercholesterolemia and Metabolic Syndrome. Medicina. 2019.
25 Gorenjak V, Vance D.R, Petrelis A, Stathopoulou MG, Dadé S, El Shamieh S, Murray H, Masson C, Lamont J, Fitzgerald P, Visvikis-Siest S. Peripheral blood mononuclear cells extracts VEGF protein levels and VEGF mRNA: Associations with inflammatory molecules in a healthy population. PLoS ONE. 2019.
26 El Shamieh S*, Saleh F*, Assaad S, Farhat F. Next generation sequencing reveals a nonsense mutation in RB1 that may promote chemo-resistance to palbociclib in ovarian cancer. Drug Metabolism & Personalized Therapy. 2019.
27 Jaffal L, Joumaa W, Assi A, Helou C, Condroyer C, El Dor M, Cherfan G, Zeitz C, Audo I, Zibara K, El Shamieh S†. Novel missense mutations in BEST1 are associated with bestrophinopathies in Lebanese patients. Genes, 2019.
28 Assaad S, Costanian C, Jaffal L, Tannous F, Stathopoulou M, El Shamieh S†. Association of TLR4 Polymorphisms, Expression, and Vitamin D with Helicobacter pylori Infection. Journal of Personalized Medicine, 2019.
29 El Shamieh S†, Saleh F, Masri N, Fakhoury H, Fakhoury R. The association between ACE I/D polymorphism and the risk of Alzheimer's disease in Lebanon. Meta Gene. 2018.
30 Nasser M, Chedid P, Salami A, Khalifeh M, El Shamieh S, Joumaa WH. Dataset on significant role of Candesartan on cognitive functions in rats having memory impairment induced by electromagnetic waves. Data Brief. 2018.
31 El Shamieh S†, Costanian C, Kassir R, Visvkis-Siest S, Bissar-Tadmouri N. APOE genotypes in Lebanon: distribution and association with hypercholesterolemia and Alzheimer’s disease. Personalized Medicine. 2018.
32 Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I. Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. Clinical Genetics. 2018.
33 El Shamieh S, Saleh F, Moussa S, Kattan J, Farhat F. RICTOR gene amplification is correlated with metastasis and therapeutic resistance in triple negative breast cancer. Pharmacogenomics. 2018.
34 Audo I, Mohand-Said S, Boulanger-Scemama E, Zanlonghi E, Condroyer C, Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel JA, Zeitz C. MERTK mutations account for 1.7% of cases with inherited retinal dystrophies. Human Mutation. 2018 Apr 16.
35 El Shamieh S†*, Alghalyini B, Salami A, Visvikis Siest S, Fakhoury HM, Fakhoury R. Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy. Drug Metabolism & Personalized Therapy. 2018.
36 Méjécase C, Mohand-Saïd S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C. A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. Clinical Genetics. 2017.
37 El Shamieh S, Méjécase C, Bertelli M, Terray A, Michiels C, Condroyer C, Fouquet S, Sadoun M, Clérin E, Liu B, Léveillard T, Goureau O, Sahel JS, Audo I and Zeitz C. Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. Genes. 2017.
38 El Shamieh S†, Saleh F, Fawaz M, Farhat F, Siest G, Visvikis-Siest S. Next Generation Sequencing and Immuno-histochemistry profiling identify numerous biomarkers for personalized therapy of endometrioid endometrial carcinoma. Clinical Chemistry and Laboratory Medicine. 2017.
39 Akhdar H, El Shamieh S, Musso O, Désert R, Joumaa W, Guyader D, Aninat C, Corlu A, Morel F. The rs3957357C>T SNP in GSTA1 Is Associated with a Higher Risk of Occurrence of Hepatocellular Carcinoma in European Individuals. PLoS One. 2016.
40 Audo I, El Shamieh S, Méjécase C, Michiels C, Demontant V, Antonio A, Condroyer C, Boyard F, Letexier M, Saraiva JP, Blanchard S, Mohand-Saïd S, Sahel JS, Zeitz C. ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. Clinical Genetics. 2016.
41 Rancier M, Zaaber I, Stathopoulou MG, Chatelin J, Saleh A, Marmouch H, El Shamieh S, Masson C, Murray H, Lamont J, Fitzgerald P, Mahjoub S, Said K, Bel Hadj Jrad Tensaout B, Mestiri S, Visvikis-Siest S. Pro- and anti-angiogenic VEGF mRNAs in autoimmune thyroid diseases. Autoimmunity. 2016.
42 Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels E, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C and Audo I. Next-Generation Sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet Journal of Rare Diseases. 2015 .
43 Kikuchi S, Kameya S, Gocho K, El Shamieh S, Akeo K, Sugawara Y, Yamaki K, Zeitz C, Audo I, Takahashi H. Cone dystrophy in patient with homozygous RP1L1 mutation. BioMed Research International. 2015.
44 El Shamieh S, Boulanger-Scemama E, Lancelot ME, Antonio A, Démontant V, Condroyer C, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C. Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. BioMed Research International. 2015.
45 El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I. Whole exome sequencing identifies KIZ as a ciliary gene underlying autosomal recessive rodcone dystrophy. The American Journal of Human Genetics. 2014.
46 Neuillé M, El Shamieh S, Orhan E, Michiels C, Antonio A, Lancelot ME, Condroyer C, Bujakowska K, Poch O, Sahel JA, Audo I, Zeitz C. Lrit3nob6 a novel mouse model of complete congenital stationary night blindness. PLoS ONE. 2014.
47 Siest G, Ndiaye NC, El Shamieh S, Shahabi P, Stathopoulou M, Saleh AS, Godjo T, Albertini L, Visvikis-Siest S. Conference Scene: Systems biology and personalized health science and translation. Pharmacogenomics. 2013 Dec;14(16):1953-64.
48 Orhan E, Prézeau L, El Shamieh S, Bujakowska KM, Michiels C, Zagar Y, Vol C, Bhattacharya SS, Sahel JA, Sennlaub F, Audo I, Zeitz C. Further insights in GPR179: expression, localization and associated pathogenic mechanisms leading to congenital stationary night blindness. Investigative Ophthalmology Vision Sciences. 2013.
49 Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C. The familial dementia gene revisited: a missense mutation revealed by whole exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Human Molecular Genetics, 2013.
50 Stathopoulou MG, Monteiro P, Shahabi P, Peñas-Lledó E, El Shamieh S, Silva Santos L, Thilly N, Siest G, Llerena A, Visvikis-Siest S. Newly identified synergy between clopidogrel and calcium-channel blockers for blood pressure regulation possibly involves CYP2C19 rs4244285. International Journal of Cardiology, 2013.
51 Nivet-Antoine V, Labat C, El Shamieh S, Dulcire X, Cottart CH, Beaudeux JL, Zannad F, Visvikis- Siest S, Benetos A. Relationship between catalase haplotype and arterial aging. Atherosclerosis, 2013.
52 Ndiaye NC, El Shamieh S, Stathopoulou MG, Siest G, Tsai MY, Visvikis-Siest S. Two epistatic interactions may be involved in blood pressure genetic regulation. BMC Medical Genetics, 2013.
53 Stathopoulou MG*, Bonnefond A*, Ndiaye NC*, Azimi Nezhad M, El Shamieh S, Saleh A, Rancier M, Siest G, Lamont J, Fitzgerald P, Visvikis-Siest S. A common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C. Journal of Lipid Research, 2013.
54 El Shamieh S, Ndiaye NC, Stathopoulou MG, Murray HA, Masson C, Lamont JV, Fitzgerald P, Benetos A, Visvikis-Siest S. Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels in 8,220 European individuals. PLoS ONE, 2012.
55 El Shamieh S and Visvikis-Siest S. Hypertension genetic biomarkers and future challenges with the emerging of epigenomics. Clinica Chimica Acta, 2012.
56 Mangino M, Hwang SJ, Spector TD, Hunt SC, Kimura M, Fitzpatrick AL, Christiansen L, Petersen I, Elbers CC, Harris T, Chen W, Srinivasan SR, Kark JD, Benetos A, El Shamieh S, Visvikis-Siest S, Christensen K, Berenson GS, Valdes AM, Viñuela A, Garcia M, Arnett DK, Broeckel U, Province MA, Pankow JS, Kammerer C, Liu Y, Nalls M, Tishkoff S, Thomas F, Ziv E, Psaty BM, Bis JC, Rotter JI, Taylor KD, Smith E, Schork NJ, Levy D, Aviv A. Genome Wide Association points toward CTC1 and ZNF676 as telomere regulating genes. Human Molecular Genetics, 2012.
57 Froguel P, Ndiaye NC, Bonnefond A, Bouatia-Naji N, Dechaume A, Siest G, Herbeth B, Falchi M, Bottolo L, Guéant-Rodriguez RM, Lecoeur C, Langlois MR, Labrune Y, Ruokonen A, El Shamieh S, Stathopoulou MG, Morandi A, Maffeis C, Meyre D, Delanghe JR, Jacobson P, Sjöström L, Carlsson LM, Walley A, Elliott P, Jarvelin MR, Dedoussis GV, Visvikis-Siest S. A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating Haptoglobin levels. PLoS ONE, 2012.
58 Ndiaye NC*, Azimi-Nezhad M*, El Shamieh S*, Stathopoulou MG*, Visvikis-Siest S. Cardiovascular diseases and Genome-Wide Association Studies. Clinica Chimica Acta, 2011. 
59 Siest G, Nezhad MA, Bagrel D, El Shamieh S, Lambert D, Ndiaye NC, Shahabi P, Visvikis-Siest S. Functional genomics towards personalized healthcare and systems medicine. Personalized Medicine, 2011.
60 El Shamieh S, Nzietchueng R, Benachour H, Labat C, Herbeth B, Ndiaye NC, Masson C, Visvikis-Siest S, Benetos A. Klotho KL-VS genotype is involved in blood pressure regulation. Clinica Chimica Acta, 2011.
61 El Shamieh S, Herbeth B, Azimi-Nezhad M, Benachour H, Masson C, Visvikis-Siest S. Human formyl peptide receptor 1 C32T SNP is associated with increased blood pressure levels Clinica Chimica Acta, 2010 8.


2021-Present: Team Leader and member of the steering committee of the EU funded Erasmus+ OPPM (100K$, 3 years).

  • Project: Online pharmacogenomics and personalized medicine postgraduate program.

2021: 3Billion company, Seoul, South Korea (35K$, 8 months).

  • Project: Whole exome sequencing of thirty-three Lebanese patients with inherited retinal diseases

2018-2020: Beirut Arab University, Principal Investigator (18.5K$ over 2 years).

  • Project: Genetics of chronic obstructive pulmonary disease in Lebanese affected individuals.

2018-2020: King Faisal University, Co-investigator (13K$, over 18 months).

  • Project: Study of the association of Vascular Endothelial Growth Factor gene polymorphisms with Blood pressure and Hypertension.

2018-2020: Lebanese University President’s Research Grant. Co-Principal Investigator (16K$ over 2 years).

  • Project: Targeted Next Generation Sequencing for Lebanese Individuals with Usher Syndrome.

2016-2018: Lebanese University President’s Research Grant. Principal Investigator (15K$ over 2 years).

  • Project: Targeted and Whole Exome Next Generation Sequencing for Lebanese Individuals with Rod Cone Dystrophy.

2016-2018: Lebanese University President’s Research Grant. Co-Investigator (12K$ over 2 years).

  • Project: The Association between Helicobacter pylori Infection in Patients with Diabetes and Gastric Cancer in Lebanon: The Immunology, Genetics and Epidemiology.

2009-2012: Région Lorraine Research Grant (29K€ over 3 years).


2022- Present: Associate Editor, BMC Medical Genomics (IF=3.6, Q2 Scimago), Springer Nature, UK

2021-Present: Associate Editor, Section: genetics of rare diseases, Frontiers in Bioscience Landmark (IF=4.1, Q1 Scimago).

2021-2022: Guest Editor of the special issue: The genetics of inherited retinal diseases in understudied ethnic groups: novel associations, challenges, and perspectives, Frontiers in Genetics (IF=4.56).


Undergraduate Courses:

- Genetics and Molecular Biology (3 Credits).
- Biochemistry (3 Credits)
- Molecular Genetics (1 Credit)
-  Clinical Biochemistry (3 Credits)


Graduate Courses:

- Nutrigenomics (3 Credits).

- Genomics and Proteomics (3 Credits).

Research Interests

Research focuses on undergoing genotype - phenotype associations to identify genetic variants associated with Inherited Retinal diseases.